acute bilirubin encephalopathy
Findings
No curated finding names acute bilirubin encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
Definition from the Mondo Disease Ontology (MONDO:0035344), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal auditory evoked potentialsHPOHP:0006958
- Very frequent (80% to 99% of cases)
- Hepatic encephalopathyHPOHP:0002480
- Very frequent (80% to 99% of cases)
- Neonatal hyperbilirubinemiaHPOHP:0003265
- Very frequent (80% to 99% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Very frequent (80% to 99% of cases)
- Abnormal conjunctiva morphologyHPOHP:0000502
- Frequent (30% to 79% of cases)
- Abnormal thalamic MRI signal intensityHPOHP:0012696
- Frequent (30% to 79% of cases)
Show the remaining 8
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
- KernicterusHPOHP:0001343
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- HypernatremiaHPOHP:0003228
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: acute bilirubin encephalopathy
- Also called
- ABEAcute kernicterus